Dandy-Walker Malformation in a Fetus with Pentasomy X (49, XXXXX) Prenatally Diagnosed by Fluorescence in situ Hybridization Technique

Autor:	Thomas D. Myles, Laurence I. Burd, Guillermo Font, Maureen M. McCorguodale, Donald J. McCorquodale
Rok vydání:	1995
Předmět:	Adult Polyhydramnios Embryology Pathology medicine.medical_specialty X Chromosome Prenatal diagnosis In situ hybridization Ultrasonography Prenatal Pregnancy Prenatal Diagnosis medicine Humans Radiology Nuclear Medicine and imaging Hypertelorism In Situ Hybridization Fluorescence Fetus medicine.diagnostic_test business.industry Obstetrics and Gynecology General Medicine Aneuploidy medicine.disease Karyotyping Pediatrics Perinatology and Child Health Female 49 XXXXX medicine.symptom Dandy-Walker Syndrome business Dandy-Walker malformation Hydrocephalus Fluorescence in situ hybridization
Zdroj:	Fetal Diagnosis and Therapy. 10:333-336
ISSN:	1421-9964 1015-3837
DOI:	10.1159/000264254
Popis:	We present the case of a pentasomy X (49,XXXXX) prenatally diagnosed. The fluorescent in situ hybridization technique assisted in making the diagnosis. The problems identified in this fetus include a Dandy-Walker malformation, hydrocephaly, ventricular septal defect, hypertelorism and polyhydramnios.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9757a75000da3518d1b57515474c9a https://doi.org/10.1159/000264254 Zobrazit plný text záznamu